Hs02186252_cn

• Gene Symbol: AASDH
• Assay Reference Genome Location: Chr.4:56343622 on build GRCh38
• Cytoband: 4q12

Target Gene Details

• Entrez Gene ID: 132949
• Gene Name: aminoadipate-semialdehyde dehydrogenase
• Gene Aliases: ACSF4, LYS2, NRPS1098, NRPS998
• Location: Chr.4:56337687-56387677 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AASDH	NM_001286668.1	12	2632	NP_001273597.1
	NM_001286669.1	12	2783	NP_001273598.1
	NM_001286670.1	10	2307	NP_001273599.1
	NM_001286671.1			NP_001273600.1
	NM_001323890.1	14	3021	NP_001310819.1
	NM_001323892.1	12	2740	NP_001310821.1
	NM_001323893.1	11	2619	NP_001310822.1
	NM_001323899.1	12	2797	NP_001310828.1
	NM_181806.3	13	2904	NP_861522.2
	XM_017007740.1	13	2865	XP_016863229.1
	XM_017007741.1	14	2980	XP_016863230.1
	XM_017007742.1	11	2680	XP_016863231.1
	XM_017007743.1	12	2701	XP_016863232.1
	XM_017007744.1	10	2487	XP_016863233.1
	AF516672.1	12	2547	AAP76519.1
	AK294332.1	10	2269
	AK303733.1	11	2572
	AK304309.1	13	2895
	AK316296.1	13	2885
	AY314787.1	13	2867	AAQ83120.1
	AY422212.1	13	2819	AAR31184.1
	BC142709.1
	BX640635.1	8	3735	CAH56482.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1161086	Chr.4:56310907 - 56510457 on Build GRCh38	Duplication	KIAA1211 AASDH PAICS PPAT LOC100506514 SRP72 ARL9
nsv829940	Chr.4:56206175 - 56396564 on Build GRCh38	Gain	KIAA1211 AASDH LOC101928760 PPAT
dgv5213n100	Chr.4:56076751 - 56538345 on Build GRCh38	Gain	KIAA1211 AASDH PAICS LOC101928760 PPAT LOC100506514 SRP72 ARL9 THEGL

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

fatty acid metabolic process

Function(s)

ATP binding
acid-thiol ligase activity